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Start free with EleplanInfantile dystonia-parkinsonism
ORPHA:238455Disease
Also called DTDS · Dopamine transporter deficiency syndrome · IPD · PKDYS
What it is
Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
18- Abnormality of carboxylic acid metabolism
- Abnormal pyramidal sign
- Absent speech
- Axial hypotonia
- Bradykinesia
- Cerebral palsy
- Chorea
- Constipation
- Feeding difficulties
- Gastroesophageal reflux
- Global developmental delay
- Hypertonia
- Hypokinesia
- Hypomimic face
- Irritability
- Limb hypertonia
- Oculogyric crisis
- Orofacial dyskinesia
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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